De novo DNM1L variant in a teenager with progressive paroxysmal dystonia and lethal super-refractory myoclonic status epilepticus
Conor S Ryan, Anthony L Fine, Alexander L Cohen, Brenda M Schiltz, Deborah L Renaud, Elaine C Wirrell, Marc C Patterson, Nicole J Boczek, Raymond Liu, Dusica Babovic-Vuksanovic, others